CAV2 - caveolin 2 Gene

中文名称：小窝蛋白 2

种属: Homo sapiens

同用名: CAV

基因 ID: 858 | 基因类型: protein coding

关于 CAV2

Cytogenetic location: 7q31.2 Genomic coordinates (GRCh38): 7:116,499,738-116,508,541 (from NCBI)

This gene has 15 transcripts (splice variants), 194 orthologues and 2 paralogues. Broad expression in fat (RPKM 133.6), lung (RPKM 106.3) and 17 other tissues.

功能概要

由该基因编码的蛋白质是小窝内表面的主要成分，质膜的小内陷，并参与基本的细胞功能，包括信号转导、脂质代谢、细胞生长控制和细胞凋亡。这种蛋白质可能起到肿瘤抑制因子的作用。该基因和相关家族成员 (CAV1) 在 7 号染色体上彼此相邻，表达共定位蛋白，形成稳定的异源寡聚复合物。已经为该基因鉴定了编码不同亚型的可变剪接转录物变体。还描述了使用替代的帧内翻译起始密码子产生的其他亚型，并显示在细胞中具有优先定位 (PMID：11238462) 。[RefSeq 提供，2011 年 5 月]

The protein encoded by this gene is a major component of the inner surface of caveolae, small invaginations of the plasma membrane, and is involved in essential cellular functions, including signal transduction, lipid metabolism, cellular growth control and Apoptosis. This protein may function as a tumor suppressor. This gene and related family member (CAV1) are located next to each other on chromosome 7, and express colocalizing proteins that form a stable hetero-oligomeric complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Additional isoforms resulting from the use of alternate in-frame translation initiation codons have also been described, and shown to have preferential localization in the cell (PMID:11238462). [provided by RefSeq, May 2011]

CAV2 基因产物(4)

mRNA	Protein	Name
NM_001206747.2	NP_001193676.1	caveolin-2 isoform b
NM_001206748.2	NP_001193677.1	caveolin-2 isoform d
NM_001233.5	NP_001224.1	caveolin-2 isoform a
NM_198212.3	NP_937855.1	caveolin-2 isoform c

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables D1 dopamine receptor binding	IPI IPI: 通过物理相互作用推断	15569306	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	10212252	GOA
enables protein homodimerization activity	IDA IDA: 通过直接分析推断	8552590	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in caveola assembly	IDA IDA: 通过直接分析推断	12743374	GOA
involved in caveola assembly	IMP IMP: 通过突变表型推断	12633858	GOA
involved in insulin receptor signaling pathway	IDA IDA: 通过直接分析推断	20455999	GOA
involved in positive regulation by host of viral process	IMP IMP: 通过突变表型推断	25556234	GOA
involved in positive regulation of GTPase activity	IDA IDA: 通过直接分析推断	8552590	GOA
involved in positive regulation of MAPK cascade	IDA IDA: 通过直接分析推断	20455999	GOA
involved in positive regulation of dopamine receptor signaling pathway	IMP IMP: 通过突变表型推断	15569306	GOA
involved in receptor-mediated endocytosis of virus by host cell	IGI IGI: 通过遗传相互作用推断	21047970	GOA
involved in regulation of mitotic nuclear division	IEP IEP: 通过表达模式推断	18081315	GOA
involved in vesicle docking	IDA IDA: 通过直接分析推断	12743374	GOA
involved in vesicle fusion	IDA IDA: 通过直接分析推断	12743374	GOA
involved in vesicle organization	IDA IDA: 通过直接分析推断	12743374	GOA
involved in viral release from host cell	IMP IMP: 通过突变表型推断	25556234	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in caveola	IDA IDA: 通过直接分析推断	8552590	GOA
located in cytoplasmic vesicle	IDA IDA: 通过直接分析推断	22792322	GOA
colocalizes with focal adhesion	IDA IDA: 通过直接分析推断	12091389	GOA
located in membrane raft	IDA IDA: 通过直接分析推断	11294831	GOA
located in perinuclear region of cytoplasm	IDA IDA: 通过直接分析推断	18081315	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	8552590	GOA
located in plasma membrane raft	IDA IDA: 通过直接分析推断	15569306	GOA
part of protein-containing complex	IDA IDA: 通过直接分析推断	24013648	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

CAV2 蛋白结构

Caveolin

0
100
162 a.a.

蛋白主名

其他名称

caveolin-2

caveolae protein, 20-kD

关联疾病

疾病名称

别名

Lung Pleomorphic Carcinoma

Episodic Ataxia, Type 2

Episodic Ataxia Type 2	EA2
Apca	Capa
Cerebellopathy, Hereditary Paroxysmal	Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia
Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive	Episodic Ataxia With Nystagmus
Ataxia, Episodic, With Nystagmus	Episodic Ataxia, Nystagmus-Associated
Ataxia, Familial Paroxysmal	Acetazolamide-Responsive Episodic Ataxia Syndrome
Acetazolamide-Responsive, Hereditary, Paroxysmal, Cerebellar Ataxia	Ataxia, Familial, Paroxysmal
Nystagmus-Associated Episodic Ataxia	Familial Paroxysmal Ataxia
Episodic Ataxia 2	Ea-2
Episodic Ataxia Nystagmus-Associated	Hereditary Paroxysmal Cerebellopathy
Ataxia, Episodic, Type 2

Brill-Zinsser Disease

Recrudescent Typhus	Brill Disease
Brill Zinsser Disease	Brill'S Disease
Latent Typhus	Sporadic Typhus
Typhus, Epidemic Louse-Borne	Recrudescent Typhus Due To Rickettsia Prowazekii
Recrudescent Typhus Fever	Recrudescent Brill-Zinsser Typhus Due To Rickettsia Prowazekii
Recrudescent Brill Disease	Recrudescent Typhus Fever Due To Rickettsia Prowazekii

Rippling Muscle Disease 2

Rippling Muscle Disease	Rmd
Lgmd1c	RMD2
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c	Muscular Dystrophy, Limb-Girdle, Type 1c
Muscular Dystrophy, Limb-Girdle, Type 1c, Formerly	Lgmd1c, Formerly
Limb-Girdle Muscular Dystrophy Type 1c	Limb-Girdle Muscular Dystrophy Due To Caveolin-3 Deficiency
Muscular Dystrophy, Limb-Girdle, Type Ic	Rippling Muscle Syndrome
Limb-Girdle Muscular Dystrophy 1c	Dystrophy, Muscular, Limb-Girdle, Type 1c
Disease, Muscle, Rippling, Type 2	Rippling Muscle Disease 1

Queensland Tick Typhus

Australian Tick Typhus	North Queensland Tick Typhus
Rickettsia Australis Spotted Fever

Glaucoma, Primary Open Angle

Glaucoma 1, Open Angle, E	Primary Open Angle Glaucoma
POAG	Adult-Onset Primary Open Angle Glaucoma
Chronic Simple Glaucoma	GLC1E
Primary Open Angle Glaucoma 1e	Glaucoma, Open Angle, Primary

Glaucoma, Normal Tension

Low Tension Glaucoma	Glaucoma, Normal Tension, Susceptibility To
Normal Tension Glaucoma	Ntg
Glaucoma, Normal Pressure	NPG
Glaucoma, Normal Pressure, Susceptibility To	Poag/Npg - [Normal Pressure Primary Open-Angle Glaucoma]

Lipodystrophy, Congenital Generalized, Type 3

Congenital Generalized Lipodystrophy Type 3	CGL3
Bscl3	Berardinelli-Seip Congenital Lipodystrophy Type 3
Berardinelli-Seip Congenital Lipodystrophy, Type 3	Lipodystrophy, Berardinelli-Seip Congenital, Type 3
Type 3 Berardinelli-Seip Congenital Lipodystrophy	Congenital Generalized Lipodystrophy 3

Spinocerebellar Ataxia 6

Spinocerebellar Ataxia Type 6	SCA6
Type 6 Spinocerebellar Ataxia	Spinocerebellar Ataxia-6
Ataxia, Spinocerebellar, Type 6

Open-Angle Glaucoma

Glaucoma Simplex	Pigmentary Glaucoma
Wide-Angle Glaucoma	Glaucoma, Open-Angle
Open Angle Glaucoma	Glaucoma Open-Angle
Chronic Simple Glaucoma	Coag - [Chronic Open-Angle Glaucoma]
Csg - [Chronic Simple Glaucoma]	Poag - [Primary Open-Angle Glaucoma]
Oag - [Open-Angle Glaucoma]	Chronic Glaucoma
Chronic Open Angle Glaucoma	Simple Glaucoma
Chronic Noncongestive Glaucoma	Ltg - [Low Tension Glaucoma]
Noncongestive Glaucoma	Nonobstructive Glaucoma
Normal Pressure Glaucoma	Primary Low Tension Glaucoma
Low-Tension Glaucoma	Residual Stage Low Tension Glaucoma
Open Cleft Glaucoma

Isolated Elevated Serum Creatine Phosphokinase Levels

Elevated Serum Cpk	Idiopathic Hyperckemia
Isolated Hyperckemia	Elevated Serum Creatine Phosphokinase
H-Ck	Idiopathic Persistent Elevation Of Serum Creatine Kinase

Episodic Ataxia

Isaacs Syndrome	Neuromyotonia
Isaacs' Syndrome	Acquired Neuromyotonia
Continuous Muscle Fiber Activity Syndrome	Quantal Squander Syndrome
Isaacs-Mertens Syndrome	Ea Syndrome
Episodic Ataxia Syndrome	Isaac Syndrome
Isaac'S-Merten'S Syndrome	Isaac-Mertens Syndrome
Peripheral Nerve Hyperexcitability	Ea
Peripheral Nerve Hyperexcitability Syndrome	Ataxia, Episodic
Isaacs Neuromyotonia	Continuous Muscle Fibre Activity

Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary	Congenital Essential Nyctalopia
Oguchi Disease	Blindness, Night, Stationary, Congenital

Migraine With Or Without Aura 1

Migraine	Migraine With Or Without Aura, Susceptibility To, 1
Migraine Disorder	Migraine Variant
Migraines	Migraine Disorders
Mgr1	Mgau
Ma	Migraine With Or Without Aura
Classic Migraine	Common Migraine
Disorder, Migraine	Headache Migraine
Headache Migrainous	Migraine Headache
Migraine Syndrome	Headache Including Migraine
Migraine, Susceptibility To

疾病名称	别名
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-P1080A	ω-Agatoxin IVA TFA	Inhibitor	98.13%	否
HY-P1074	SNX-482	Inhibitor	≥99.0%	否
HY-119373	Cav 2.2 blocker 1	Inhibitor	98.78%	否
HY-115597	BTT-266	Antagonist	/	否
HY-120751	TROX-1	Inhibitor	/	否
HY-147639	Cav 2.2/3.2 blocker 1	Inhibitor	/	否
HY-148866	Cavα2δ1&NET-IN-3	Inhibitor	/	否
HY-164803	CBD3063	Modulator	/	否
HY-P1080	ω-Agatoxin IVA	Inhibitor	/	否
HY-P5804	ω-Conotoxin CVIF	Inhibitor	/	否
HY-P5820	ω-Conotoxin Bu8	Inhibitor	/	否
HY-P5874	Myr-TAT-CBD3	Inhibitor	/	否
HY-P5902	ω-conotoxin MoVIA	Inhibitor	/	否
HY-RS01987	CAV2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	CAV2	RGD	RGD:620348
Canis familiaris	CAV2	VGNC	VGNC:38752
Macaca mulatta	CAV2	VGNC	VGNC:80806
Bos taurus	CAV2	VGNC	VGNC:26800
Mus musculus	CAV2	MGD	MGI:107571
Felis catus	CAV2	VGNC	VGNC:60399

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

CAV2 - caveolin 2 Gene

关于 CAV2

功能概要

CAV2 基因产物(4)

CAV2 蛋白结构

关联疾病

直系同源

热门区域

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CAV2 - caveolin 2 Gene

关于 CAV2

功能概要

CAV2 基因产物(4)

CAV2 蛋白结构

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

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